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Page 1
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
Owen D, Töpf A, Preethish-Kumar V, Lorenzoni PJ, Vroling B, Scola RH, Dias-Tosta E, Geraldo A, Polavarapu K, Nashi S, Cox D, Evangelista T, Dawson J, Thompson R, Senderek J, Laurie S, Beltran S, Gut M, Gut I, Nalini A, Lochmüller H. Owen D, et al. Among authors: beltran s. Am J Med Genet A. 2018 Jul;176(7):1594-1601. doi: 10.1002/ajmg.a.38707. Epub 2018 Apr 28. Am J Med Genet A. 2018. PMID: 29704306
Somatic Embryonic FGFR2 Mutations in Keratinocytic Epidermal Nevi.
Toll A, Fernández LC, Pons T, Groesser L, Sagrera A, Carrillo-de Santa Pau E, Vicente A, Baselga E, Vázquez M, Beltrán S, Pisano DG, Rueda D, Gut M, Pujol RM, Hafner C, Gut I, Valencia A, Real FX. Toll A, et al. Among authors: beltran s. J Invest Dermatol. 2016 Aug;136(8):1718-1721. doi: 10.1016/j.jid.2016.03.040. Epub 2016 Apr 19. J Invest Dermatol. 2016. PMID: 27103312 Free article. No abstract available.
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L, Tonda R, Gausachs M, Trotta JR, Castellanos E, López-Doriga A, Teulé À, Tornero E, Del Valle J, Gel B, Gut M, Pineda M, González S, Menéndez M, Navarro M, Capellá G, Gut I, Serra E, Brunet J, Beltran S, Lázaro C. Feliubadaló L, et al. Among authors: beltran s. Sci Rep. 2017 Jan 4;7:37984. doi: 10.1038/srep37984. Sci Rep. 2017. PMID: 28050010 Free PMC article.
Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.
Gstrein T, Edwards A, Přistoupilová A, Leca I, Breuss M, Pilat-Carotta S, Hansen AH, Tripathy R, Traunbauer AK, Hochstoeger T, Rosoklija G, Repic M, Landler L, Stránecký V, Dürnberger G, Keane TM, Zuber J, Adams DJ, Flint J, Honzik T, Gut M, Beltran S, Mechtler K, Sherr E, Kmoch S, Gut I, Keays DA. Gstrein T, et al. Among authors: beltran s. Nat Neurosci. 2018 Feb;21(2):207-217. doi: 10.1038/s41593-017-0053-5. Epub 2018 Jan 8. Nat Neurosci. 2018. PMID: 29311744 Free PMC article.
Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.
Gstrein T, Edwards A, Přistoupilová A, Leca I, Breuss M, Pilat-Carotta S, Hansen AH, Tripathy R, Traunbauer AK, Hochstoeger T, Rosoklija G, Repic M, Landler L, Stránecký V, Dürnberger G, Keane TM, Zuber J, Adams DJ, Flint J, Honzik T, Gut M, Beltran S, Mechtler K, Sherr E, Kmoch S, Gut I, Keays DA. Gstrein T, et al. Among authors: beltran s. Nat Neurosci. 2018 Aug;21(8):1139. doi: 10.1038/s41593-018-0170-9. Nat Neurosci. 2018. PMID: 29875394
A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome.
Permanyer E, Laurie S, Blasco-Lucas A, Maldonado G, Amador-Catalan A, Ferrer-Curriu G, Fuste B, Perez ML, Gonzalez-Alujas T, Beltran S, Comas-Riu J, Bardají A, Evangelista A, Galiñanes M. Permanyer E, et al. Among authors: beltran s. Eur J Med Genet. 2020 Apr;63(4):103854. doi: 10.1016/j.ejmg.2020.103854. Epub 2020 Jan 23. Eur J Med Genet. 2020. PMID: 31981616
408 results